Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics
Author:
Funder
Wilhelm Sander-Stiftung
Deutsche Krebshilfe
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Genetics(clinical),Oncology,Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10689-020-00159-4.pdf
Reference35 articles.
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3. Pearlman R, Haraldsdottir S, de la Chapelle A, Jonasson JG, Liyanarachchi S, Frankel WL, Rafnar T, Stefansson K, Pritchard CC, Hampel H (2019) Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome. J Med Genet 56(7):462–470. https://doi.org/10.1136/jmedgenet-2018-105698
4. Vargas-Parra GM, Gonzalez-Acosta M, Thompson BA, Gomez C, Fernandez A, Damaso E, Pons T, Morak M, Del Valle J, Iglesias S, Velasco A, Solanes A, Sanjuan X, Padilla N, de la Cruz X, Valencia A, Holinski-Feder E, Brunet J, Feliubadalo L, Lazaro C, Navarro M, Pineda M, Capella G (2017) Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis. Int J Cancer 141(7):1365–1380. https://doi.org/10.1002/ijc.30820
5. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S (2004) Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261–268
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